Term Name: thiamine-responsive megaloblastic anemia syndrome
Synonyms: Rogers syndrome, thiamine metabolism dysfunction syndrome 1, thiamine-responsive anaemia syndrome, thiamine-responsive anemia syndrome, thiamine-responsive megaloblastic anaemia syndrome, thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness, thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness, thiamine-responsive myelodysplasia, THMD1, TRMA
Definition: A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24.
Ontology: Human Disease [DOID:0090117]   ( DOID:0090117 )

Relationships
is a type of: autosomal recessive disease syndrome